-
1
-
-
84868107456
-
Genetic epidemiology of Charcot-Marie-Tooth disease
-
Braathen GJ Genetic epidemiology of Charcot-Marie-Tooth disease. Acta Neurol Scand Suppl 2012, 193:iv-22.
-
(2012)
Acta Neurol Scand Suppl
, vol.193
, pp. iv-22
-
-
Braathen, G.J.1
-
2
-
-
70350690312
-
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
-
Norwood FLM, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009, 132:3175-3186.
-
(2009)
Brain
, vol.132
, pp. 3175-3186
-
-
Norwood, F.L.M.1
Harling, C.2
Chinnery, P.F.3
Eagle, M.4
Bushby, K.5
Straub, V.6
-
3
-
-
84862625633
-
Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges
-
Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges. Curr Gene Ther 2012, 12:152-160.
-
(2012)
Curr Gene Ther
, vol.12
, pp. 152-160
-
-
Arechavala-Gomeza, V.1
Anthony, K.2
Morgan, J.3
Muntoni, F.4
-
4
-
-
71049153213
-
The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study
-
Verhamme C, van Schaik IN, Koelman JHTM, de Haan RJ, de Visser M The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain 2009, 132:3252-3262.
-
(2009)
Brain
, vol.132
, pp. 3252-3262
-
-
Verhamme, C.1
van Schaik, I.N.2
Koelman, J.H.T.M.3
de Haan, R.J.4
de Visser, M.5
-
5
-
-
0025454512
-
Comparisons of five health status instruments for orthopedic evaluation
-
Liang MH, Fossel AH, Larson MG Comparisons of five health status instruments for orthopedic evaluation. Med Care 1990, 28:632-642.
-
(1990)
Med Care
, vol.28
, pp. 632-642
-
-
Liang, M.H.1
Fossel, A.H.2
Larson, M.G.3
-
6
-
-
79952736703
-
Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
-
Pareyson D, Reilly MM, Schenone A, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 2011, 10:320-328.
-
(2011)
Lancet Neurol
, vol.10
, pp. 320-328
-
-
Pareyson, D.1
Reilly, M.M.2
Schenone, A.3
-
7
-
-
78650170260
-
168th ENMC international workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT)
-
Reilly MM, Shy ME, Muntoni F, Pareyson D 168th ENMC international workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord 2010, 20:839-846.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 839-846
-
-
Reilly, M.M.1
Shy, M.E.2
Muntoni, F.3
Pareyson, D.4
-
8
-
-
0025831477
-
Three-point Dixon technique for true water/fat decomposition with B0 inhomogeneity correction
-
Glover GH, Schneider E Three-point Dixon technique for true water/fat decomposition with B0 inhomogeneity correction. Magn Reson Med 1991, 18:371-383.
-
(1991)
Magn Reson Med
, vol.18
, pp. 371-383
-
-
Glover, G.H.1
Schneider, E.2
-
9
-
-
84857070597
-
Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI
-
Hiba B, Richard N, Hébert LJ, et al. Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI. J Magn Reson Imaging 2012, 35:678-685.
-
(2012)
J Magn Reson Imaging
, vol.35
, pp. 678-685
-
-
Hiba, B.1
Richard, N.2
Hébert, L.J.3
-
10
-
-
79955040189
-
Muscle fat fraction in neuromuscular disorders: dual-echo dual-flip-angle spoiled gradient-recalled MR imaging technique for quantification-a feasibility study
-
Gaeta M, Scribano E, Mileto A, et al. Muscle fat fraction in neuromuscular disorders: dual-echo dual-flip-angle spoiled gradient-recalled MR imaging technique for quantification-a feasibility study. Radiology 2011, 259:487-494.
-
(2011)
Radiology
, vol.259
, pp. 487-494
-
-
Gaeta, M.1
Scribano, E.2
Mileto, A.3
-
11
-
-
78650649743
-
Quantification of fat infiltration in oculopharyngeal muscular dystrophy: comparison of three MR imaging methods
-
Gloor M, Fasler S, Fischmann A, et al. Quantification of fat infiltration in oculopharyngeal muscular dystrophy: comparison of three MR imaging methods. J Magn Reson Imaging 2011, 33:203-210.
-
(2011)
J Magn Reson Imaging
, vol.33
, pp. 203-210
-
-
Gloor, M.1
Fasler, S.2
Fischmann, A.3
-
12
-
-
38449096326
-
Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study
-
Wren TAL, Bluml S, Tseng-Ong L, Gilsanz V Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study. Am J Roentgenol 2008, 190:W8-12.
-
(2008)
Am J Roentgenol
, vol.190
, pp. W8-12
-
-
Wren, T.A.L.1
Bluml, S.2
Tseng-Ong, L.3
Gilsanz, V.4
-
13
-
-
84881527343
-
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study
-
Willis TA, Hollingsworth KG, Coombs A, et al. Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One 2013, 8:e70993.
-
(2013)
PLoS One
, vol.8
, pp. e70993
-
-
Willis, T.A.1
Hollingsworth, K.G.2
Coombs, A.3
-
14
-
-
84155169037
-
Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies
-
Sinclair CDJ, Morrow JM, Miranda MA, et al. Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. J Neurol Neurosurg Psychiatry 2012, 83:29-32.
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, pp. 29-32
-
-
Sinclair, C.D.J.1
Morrow, J.M.2
Miranda, M.A.3
-
15
-
-
84899120122
-
Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: effects of age and disease progression
-
Willcocks RJ, Arpan IA, Forbes SC, et al. Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: effects of age and disease progression. Neuromuscul Disord 2014, 24:393-401.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 393-401
-
-
Willcocks, R.J.1
Arpan, I.A.2
Forbes, S.C.3
-
16
-
-
84902360840
-
Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers
-
Morrow JM, Sinclair CDJ, Fischmann A, et al. Reproducibility, and age, body-weight and gender dependency of candidate skeletal muscle MRI outcome measures in healthy volunteers. Eur Radiol 2014, 24:1610-1620.
-
(2014)
Eur Radiol
, vol.24
, pp. 1610-1620
-
-
Morrow, J.M.1
Sinclair, C.D.J.2
Fischmann, A.3
-
17
-
-
75149122299
-
Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008
-
Hilton-Jones D, Miller A, Parton M, Holton J, Sewry C, Hanna MG Inclusion body myositis: MRC Centre for Neuromuscular Diseases, IBM workshop, London, 13 June 2008. Neuromuscul Disord 2010, 20:142-147.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 142-147
-
-
Hilton-Jones, D.1
Miller, A.2
Parton, M.3
Holton, J.4
Sewry, C.5
Hanna, M.G.6
-
18
-
-
84919792473
-
Ongoing developments in sporadic inclusion body myositis
-
Machado PM, Ahmed M, Brady S, et al. Ongoing developments in sporadic inclusion body myositis. Curr Rheumatol Rep 2014, 16:477.
-
(2014)
Curr Rheumatol Rep
, vol.16
, pp. 477
-
-
Machado, P.M.1
Ahmed, M.2
Brady, S.3
-
19
-
-
0026877917
-
The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection
-
Ware JE, Sherbourne CD The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 1992, 30:473-483.
-
(1992)
Med Care
, vol.30
, pp. 473-483
-
-
Ware, J.E.1
Sherbourne, C.D.2
-
20
-
-
80055011529
-
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
-
Murphy SM, Herrmann DN, McDermott MP, et al. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2011, 16:191-198.
-
(2011)
J Peripher Nerv Syst
, vol.16
, pp. 191-198
-
-
Murphy, S.M.1
Herrmann, D.N.2
McDermott, M.P.3
-
21
-
-
41849098898
-
Inclusion body myositis functional rating scale: a reliable and valid measure of disease severity
-
Jackson CE, Barohn RJ, Gronseth G, Pandya S, Herbelin L Inclusion body myositis functional rating scale: a reliable and valid measure of disease severity. Muscle Nerve 2008, 37:473-476.
-
(2008)
Muscle Nerve
, vol.37
, pp. 473-476
-
-
Jackson, C.E.1
Barohn, R.J.2
Gronseth, G.3
Pandya, S.4
Herbelin, L.5
-
22
-
-
84855991055
-
Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps
-
Sinclair CDJ, Morrow JM, Hanna MG, et al. Correcting radiofrequency inhomogeneity effects in skeletal muscle magnetisation transfer maps. NMR Biomed 2012, 25:262-270.
-
(2012)
NMR Biomed
, vol.25
, pp. 262-270
-
-
Sinclair, C.D.J.1
Morrow, J.M.2
Hanna, M.G.3
-
23
-
-
33744930583
-
User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability
-
Yushkevich PA, Piven J, Hazlett HC, et al. User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability. NeuroImage 2006, 31:1116-1128.
-
(2006)
NeuroImage
, vol.31
, pp. 1116-1128
-
-
Yushkevich, P.A.1
Piven, J.2
Hazlett, H.C.3
-
24
-
-
33744998101
-
136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A) 8-10 April 2005, Naarden, The Netherlands
-
Reilly MM, de Jonghe P, Pareyson D 136th ENMC International Workshop: Charcot-Marie-Tooth disease type 1A (CMT1A) 8-10 April 2005, Naarden, The Netherlands. Neuromuscul Disord 2006, 16:396-402.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 396-402
-
-
Reilly, M.M.1
de Jonghe, P.2
Pareyson, D.3
-
25
-
-
84882375832
-
High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial
-
Lewis RA, McDermott MP, Herrmann DN, et al. High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol 2013, 70:981-987.
-
(2013)
JAMA Neurol
, vol.70
, pp. 981-987
-
-
Lewis, R.A.1
McDermott, M.P.2
Herrmann, D.N.3
-
26
-
-
72149100190
-
Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial
-
Micallef J, Attarian S, Dubourg O, et al. Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 2009, 8:1103-1110.
-
(2009)
Lancet Neurol
, vol.8
, pp. 1103-1110
-
-
Micallef, J.1
Attarian, S.2
Dubourg, O.3
-
27
-
-
0026653725
-
Sixteen S-squared over D-squared: a relation for crude sample size estimates
-
Lehr R Sixteen S-squared over D-squared: a relation for crude sample size estimates. Stat Med 1992, 11:1099-1102.
-
(1992)
Stat Med
, vol.11
, pp. 1099-1102
-
-
Lehr, R.1
-
28
-
-
84876073632
-
Longitudinal observational study of sporadic inclusion body myositis: implications for clinical trials
-
Cortese A, Machado P, Morrow J, et al. Longitudinal observational study of sporadic inclusion body myositis: implications for clinical trials. Neuromuscul Disord 2013, 23:404-412.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 404-412
-
-
Cortese, A.1
Machado, P.2
Morrow, J.3
-
29
-
-
0028250812
-
Quantitative MR relaxometry study of muscle composition and function in Duchenne muscular dystrophy
-
Huang Y, Majumdar S, Genant HK, et al. Quantitative MR relaxometry study of muscle composition and function in Duchenne muscular dystrophy. J Magn Reson Imaging 1994, 4:59-64.
-
(1994)
J Magn Reson Imaging
, vol.4
, pp. 59-64
-
-
Huang, Y.1
Majumdar, S.2
Genant, H.K.3
-
30
-
-
77952684112
-
T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments
-
Kim HK, Laor T, Horn PS, Racadio JM, Wong B, Dardzinski BJ T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments. Radiology 2010, 255:899-908.
-
(2010)
Radiology
, vol.255
, pp. 899-908
-
-
Kim, H.K.1
Laor, T.2
Horn, P.S.3
Racadio, J.M.4
Wong, B.5
Dardzinski, B.J.6
-
31
-
-
0020645216
-
Strength and cross-sectional area of human skeletal muscle
-
Maughan RJ, Watson JS, Weir J Strength and cross-sectional area of human skeletal muscle. J Physiol 1983, 338:37-49.
-
(1983)
J Physiol
, vol.338
, pp. 37-49
-
-
Maughan, R.J.1
Watson, J.S.2
Weir, J.3
-
32
-
-
0029775616
-
Magnetic resonance imaging of lower extremity muscles and isokinetic strength in foot dorsiflexors in patients with prior polio
-
Tollbäck A, Söderlund V, Jakobsson F, Fransson A, Borg K, Borg J Magnetic resonance imaging of lower extremity muscles and isokinetic strength in foot dorsiflexors in patients with prior polio. Scand J Rehabil Med 1996, 28:115-123.
-
(1996)
Scand J Rehabil Med
, vol.28
, pp. 115-123
-
-
Tollbäck, A.1
Söderlund, V.2
Jakobsson, F.3
Fransson, A.4
Borg, K.5
Borg, J.6
-
33
-
-
38649125200
-
Reliability of clinical outcome measures in Charcot-Marie-Tooth disease
-
Solari A, Laurà M, Salsano E, Radice D, Pareyson D Reliability of clinical outcome measures in Charcot-Marie-Tooth disease. Neuromuscul Disord 2008, 18:19-26.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 19-26
-
-
Solari, A.1
Laurà, M.2
Salsano, E.3
Radice, D.4
Pareyson, D.5
-
34
-
-
84899115435
-
Global T2 versus water T2 in NMR imaging of fatty infiltrated muscles: different methodology, different information and different implications
-
Carlier PG Global T2 versus water T2 in NMR imaging of fatty infiltrated muscles: different methodology, different information and different implications. Neuromuscul Disord 2014, 24:390-392.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 390-392
-
-
Carlier, P.G.1
-
35
-
-
62649111494
-
K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks
-
Jurkat-Rott K, Weber M-A, Fauler M, et al. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci USA 2009, 106:4036-4041.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 4036-4041
-
-
Jurkat-Rott, K.1
Weber, M.-A.2
Fauler, M.3
-
36
-
-
84897027608
-
Improved anatomical reproducibility in quantitative lower-limb muscle MRI
-
Fischmann A, Morrow JM, Sinclair CDJ, et al. Improved anatomical reproducibility in quantitative lower-limb muscle MRI. J Magn Reson Imaging 2014, 39:1033-1038.
-
(2014)
J Magn Reson Imaging
, vol.39
, pp. 1033-1038
-
-
Fischmann, A.1
Morrow, J.M.2
Sinclair, C.D.J.3
-
37
-
-
84866298172
-
Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1-2 October 2009, Paris, France
-
Hollingsworth KG, de Sousa PL, Straub V, Carlier PG Towards harmonization of protocols for MRI outcome measures in skeletal muscle studies: consensus recommendations from two TREAT-NMD NMR workshops, 2 May 2010, Stockholm, Sweden, 1-2 October 2009, Paris, France. Neuromuscul Disord 2012, 22(suppl 2):S54-S67.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. S54-S67
-
-
Hollingsworth, K.G.1
de Sousa, P.L.2
Straub, V.3
Carlier, P.G.4
-
38
-
-
84890458325
-
Human skeletal muscle fibroblasts, but not myogenic cells, readily undergo adipogenic differentiation
-
Agley CC, Rowlerson AM, Velloso CP, Lazarus NR, Harridge SDR Human skeletal muscle fibroblasts, but not myogenic cells, readily undergo adipogenic differentiation. J Cell Sci 2013, 126:5610-5625.
-
(2013)
J Cell Sci
, vol.126
, pp. 5610-5625
-
-
Agley, C.C.1
Rowlerson, A.M.2
Velloso, C.P.3
Lazarus, N.R.4
Harridge, S.D.R.5
-
39
-
-
84863591434
-
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease
-
Gaeta M, Mileto A, Mazzeo A, et al. MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2 F disease. Skeletal Radiol 2012, 41:515-524.
-
(2012)
Skeletal Radiol
, vol.41
, pp. 515-524
-
-
Gaeta, M.1
Mileto, A.2
Mazzeo, A.3
-
40
-
-
79952201807
-
Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family
-
Berciano J, Gallardo E, García A, Ramón C, Infante J, Combarros O Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family. J Neurol 2010, 257:1633-1641.
-
(2010)
J Neurol
, vol.257
, pp. 1633-1641
-
-
Berciano, J.1
Gallardo, E.2
García, A.3
Ramón, C.4
Infante, J.5
Combarros, O.6
-
41
-
-
84898850671
-
Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study
-
Pelayo-Negro AL, Gallardo E, García A, Sánchez-Juan P, Infante J, Berciano J Evolution of Charcot-Marie-Tooth disease type 1A duplication: a 2-year clinico-electrophysiological and lower-limb muscle MRI longitudinal study. J Neurol 2014, 261:675-685.
-
(2014)
J Neurol
, vol.261
, pp. 675-685
-
-
Pelayo-Negro, A.L.1
Gallardo, E.2
García, A.3
Sánchez-Juan, P.4
Infante, J.5
Berciano, J.6
-
42
-
-
67349284686
-
Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy
-
Kan HE, Scheenen TWJ, Wohlgemuth M, et al. Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2009, 19:357-362.
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 357-362
-
-
Kan, H.E.1
Scheenen, T.W.J.2
Wohlgemuth, M.3
-
43
-
-
2442606434
-
Quantitative assessment of MRI T2 relaxation time of thigh muscles in juvenile dermatomyositis
-
Maillard SM, Jones R, Owens C, et al. Quantitative assessment of MRI T2 relaxation time of thigh muscles in juvenile dermatomyositis. Rheumatology 2004, 43:603-608.
-
(2004)
Rheumatology
, vol.43
, pp. 603-608
-
-
Maillard, S.M.1
Jones, R.2
Owens, C.3
-
44
-
-
0032812650
-
Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy
-
McDaniel JD, Ulmer JL, Prost RW, et al. Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy. J Comput Assist Tomogr 1999, 23:609-614.
-
(1999)
J Comput Assist Tomogr
, vol.23
, pp. 609-614
-
-
McDaniel, J.D.1
Ulmer, J.L.2
Prost, R.W.3
-
45
-
-
84908340223
-
Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS
-
Arpan I, Willcocks RJ, Forbes SC, et al. Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS. Neurology 2014, 83:974-980.
-
(2014)
Neurology
, vol.83
, pp. 974-980
-
-
Arpan, I.1
Willcocks, R.J.2
Forbes, S.C.3
-
46
-
-
77952575649
-
Quantitative assessment of the T2 relaxation time of the gluteus muscles in children with Duchenne muscular dystrophy: a comparative study before and after steroid treatment
-
Kim HK, Laor T, Horn PS, Wong B Quantitative assessment of the T2 relaxation time of the gluteus muscles in children with Duchenne muscular dystrophy: a comparative study before and after steroid treatment. Korean J Radiol 2010, 11:304-311.
-
(2010)
Korean J Radiol
, vol.11
, pp. 304-311
-
-
Kim, H.K.1
Laor, T.2
Horn, P.S.3
Wong, B.4
|